Neurological Disorders
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Cerebellar ataxia, deafness and narcolepsy a.d. ADCADN syndrome - DNMT1
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L-Ferritin deficiency
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Aicardi-Goutières syndrome 1
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Aicardi-Goutières syndrome 2
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Aicardi-Goutières syndrome 3
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Aicardi-Goutières syndrome 4
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Aicardi-Goutières syndrome 5
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Aicardi-Goutières syndrome 6
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Alzheimer Disease
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Amyloidosis hereditary transthyretin-related
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Amyotrophic lateral sclerosis
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Amyotrophic lateral sclerosis 1
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Amyotrophic lateral sclerosis 10 - ALS10
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Amyotrophic lateral sclerosis 10 - with or without FTD
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Amyotrophic lateral sclerosis 14 - ALS14
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Amyotrophic lateral sclerosis 4 juvenile - ALS4
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Amyotrophic lateral sclerosis 6 - ALS6
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Amyotrophic lateral sclerosis type 9 - ALS9
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Amyotrophy hereditary neuralgic
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Angelman syndrome - AS
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Ataxia-ocular apraxia 2-Spinocerebellar ataxia autosomal recessive 1- SCAR1
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Brown-Vialetto-Van Laere syndrome 1
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Brown-Vialetto-Van Laere syndrome 2 - Riboflavine transporter defect
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Charcot Marie Tooth - CMT
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Choreoathetosis hypothyroidism and neonatal respiratory distress
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CNS Abnormalities
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Congenital cataracts facial dysmorphism and neuropathy - CCFDN
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Creutzfeldt Jakob disease
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Cystic leukoencephalopathy without megalencephaly
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Dementia - Lewy body
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Distal hereditary motor neuropathy type 5 - DHMN
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Dystonia 1 torsion - DYT1
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Dystonia 11 myoclonic - DYT11
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Dystonia 6 torsion - DYT6
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Epileptic encephalopathy - early infantile - 11
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Epileptic encephalopathy - early infantile - 25
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Epileptic encephalopathy early infantile 2 - Rett syndrome atypical
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Familial Amyloid Polyneuropathy
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Fragile X syndrome
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Fragile X tremor/ataxia syndrome
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Frontotemporal Dementia - FTD
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Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 - FTDALS1
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Frontotemporal lobar degeneration with ubiquitin-positive inclusions
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Goiter familial due to TTF1 defect
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Hereditary benign chorea
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Hereditary motor and sensory neuropathy type IIc - HMSN2C
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Hypomyelination with Spondylometaphyseal Dysplasia
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Intellectual developmental disorder with dysmorphic facies and ptosis
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Intellectual Disability
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Mental retardation and microcephaly with pontine and cerebellar hypoplasia
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Microcephaly
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Microcephaly 1 primary autosomal recessive
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Microcephaly 5 primary autosomal recessive
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Microcephaly 6 primary autosomal recessive
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Microcephaly 7 primary autosomal recessive
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Myotubular myopathy X-linked
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Neurodegeneration with brain iron accululation 5
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Neurodegeneration with brain iron accumulation 1
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neurodegeneration with brain iron accumulation 2A
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Neurodegeneration with brain iron accumulation 2B
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Neurodegeneration with brain iron accumulation 3
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Neurodegeneration with brain iron accumulation 4
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Neurodegeneration with brain iron accumulation 6
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Neuropathy distal hereditary motor type IIA
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Neuropathy distal hereditary motor type IIB
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Neuropathy hereditary sensory and autonomic type IA - HSAN1A
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Neuropathy hereditary sensory and autonomic type II - HSAN IIA
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Neuropathy hereditary sensory and autonomic type V - HSAN V
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Neuropathy recurrent with pressure palsies - HNPP
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Parkinson Disease 1 Autosomal Dominant
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Parkinson Disease 2 Autosomal Recessive
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Parkinson Disease 4 Autosomal Dominant
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Parkinson Disease 6 Autosomal Recessive
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Parkinson Disease 7 Autosomal Recessive
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Parkinson Disease 8 Autosomal Dominant
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Peroxisome biogenesis disorder 10A
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Peroxisome biogenesis disorder 11A
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Peroxisome biogenesis disorder 12A
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Peroxisome biogenesis disorder 13A
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Peroxisome biogenesis disorder 14B
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Peroxisome biogenesis disorder 1A
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Peroxisome biogenesis disorder 3A
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Peroxisome biogenesis disorder 4A
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Peroxisome biogenesis disorder 5A
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Peroxisome biogenesis disorder 6A
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Peroxisome biogenesis disorder 7A
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Peroxisome biogenesis disorder 8A
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Pick disease
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Pontocerebellar hypoplasia - PCH
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Pontocerebellar hypoplasia type 1A - PCH1A
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Pontocerebellar hypoplasia type 1B - PCH1B
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Pontocerebellar hypoplasia type 2A - PCH2A
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Pontocerebellar hypoplasia type 2B - PCH2B
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Pontocerebellar hypoplasia type 2C - PCH2C
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Pontocerebellar hypoplasia type 2D - PCH2D
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Pontocerebellar hypoplasia type 4 - PCH4
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Pontocerebellar hypoplasia type 6
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Prader Willi syndrome - PWS
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Rett syndrome
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Rett syndrome congenital variant
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Riboflavin deficiency
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Scapuloperoneal spinal muscular atrophy
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Spinal muscular atrophy
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Tay Sachs disease
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Treatable Metabolic Neurodegenerative Disorders
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White Matter Disorders
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Zellweger spectrum disorders
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Zellweger syndrome